TMCO1:Ensemblv115

transmembrane and coiled-coil domains 1
OMIM: 614123, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TMCO1 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Green TMCO1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TMCO1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980 cerebrofaciothoracic dysplasia MONDO:0008952
Green TMCO1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
Green TMCO1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Green TMCO1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME CFSMR Cleft palate
Green TMCO1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980